Review Article

From Genetics to Genomics of Epilepsy

Table 1

Disease genes identified in generalized myoclonic epilepsy, febrile seizures, absences (37 genes).

Gene SymbolGene name and description

ALDH7A1Aldehyde dehydrogenase 7 family, member A1
BRD2Bromodomain containing 2
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1HCalcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4Calcium channel, voltage-dependent, beta 4 subunit
CASRCalcium-sensing receptor
CHRNA2Cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4Cholinergic receptor, nicotinic, alpha 4
CHRNB2Cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN2Chloride channel 2
CSTBCystatin B (stefin B)
EFHC1EF-hand domain (C-terminal) containing 1
EPM2AEpilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3Gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRDGamma-aminobutyric acid (GABA) A receptor, delta
GABRG2Gamma-aminobutyric acid (GABA) A receptor, gamma 2
GPR98G protein-coupled receptor 98
GRIN2AGlutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2BGlutamate receptor, ionotropic, N-methyl D-aspartate 2B
KCNMA1Potassium large conductance calcium-activated channel, subfamily M, alpha member 1
KCNQ2Potassium voltage-gated channel, KQT-like subfamily, member 2
KCNQ3Potassium voltage-gated channel, KQT-like subfamily, member 3
KCTD7Potassium channel tetramerisation domain containing 7
MBD5Methyl-CpG-binding domain protein 5
ME2Malic enzyme 2, NAD(+)-dependent, mitochondrial
NHLRC1NHL repeat containing 1
PCDH19Protocadherin 19
PRICKLE1Prickle homolog 1 (Drosophila)
PRICKLE2Prickle homolog 2 (Drosophila)
SCARB2Scavenger receptor class B, member 2
SCN1ASodium channel, voltage-gated, type I, alpha subunit
SCN1BSodium channel, voltage-gated, type I, beta subunit
SCN2ASodium channel, voltage-gated, type II, alpha subunit
SCN9ASodium channel, voltage-gated, type IX, alpha subunit
SLC2A1Solute carrier family 2 (facilitated glucose transporter), member 1
TBC1D24TBC1 domain family, member 24